Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49640050C>A , CM000681.2:g.49640050C>A | GRCh38 |
| NC_000019.9:g.50143307C>A , CM000681.1:g.50143307C>A | GRCh37 |
| NC_000019.8:g.54835119C>A | NCBI36 |
| NG_042222.1:g.5094G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006270.5:c.49G>T MANE Select | NP_006261.1:p.Gly17Trp |
| ENST00000246792.4:c.49G>T MANE Select | ENSP00000246792.2:p.Gly17Trp |
| NM_006270.3:c.49G>T | NP_006261.1:p.Gly17Trp |
| NM_006270.4:c.49G>T | NP_006261.1:p.Gly17Trp |
| ENST00000246792.3:c.49G>T | ENSP00000246792.2:p.Gly17Trp |
| ENST00000601532.1:n.73G>T |